We initially undertook gene-set analyses based upon proteomics-based annotations (Table 2 and Supplementary Section 11). To avoid multiple testing involved in subgroup analysis, we present the findings for the full sample of de novos, although we note that exclusion of the single de novo in a proband with a family history of psychosis in a parent made essentially no difference to the results. Compared with Bulgarian control CNVs, we found a highly significant excess of PSD genes within case de novos (P=1.72 × 10−6; Table 2). As expected, the results where the analysis was restricted to CNVs hitting genes were similar to those of the primary analysis (data not shown).
